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Mostrando 241 - 260 Resultados de 653 Para Buscar '"All in the Family"', tiempo de consulta: 0.42s Limitar resultados
  1. 241
    “…The mutation was homoplasmic in all tissues and family members. Fibroblasts and cybrids with homoplasmic mutation had defective respiration, low complex III activity, and decreased tRNA(Pro) amount. …”
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    Homoplasmic mitochondrial tRNA(Pro) mutation causing exercise-induced muscle swelling and fatigue
  2. 242
    “…Family survey showed that all of the family members had hypercalcemia. DIAGNOSIS: The CaSR gene mutation study revealed that the proband had a homozygous mutation for a T>C nucleotide substitution at c.1664 in exon 6, while both the mother and the father had heterozygous mutations at the same site of exon 6. …”
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    Familial hypocalciuric hypercalcemia caused by homozygous CaSR gene mutation: A case report of a family
  3. 243
    “…(L75P)] and the splicing (NM_016929.5:c.63+1G>A), were validated using Sanger sequencing in all seven available family members and co-segregated with hearing impairment (HI) in the three hearing impaired family members. …”
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    Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment
  4. 244
    “…Of the 144 cases examined, 25%, 97%, 79%, 48%, and 10% were positive for EGFR, HER2, HER3, and HER4 and all four HER family members, respectively. The expression of EGFR was an indicator of poorer overall survival and the membranous expression of HER2 and HER3 3+ intensity was associated with a shorter progression free survival (PFS). …”
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    HER2 Expression Is Predictive of Survival in Cetuximab Treated Patients with RAS Wild Type Metastatic Colorectal Cancer
  5. 245
    “…The dermatologists diagnosed dermatophytosis caused by fungal infection, and M. canis was suspected as the pathogen because of the morphologic characteristics. All of her family members subsequently showed similar hair findings and symptoms. …”
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    A Household Microsporum canis Dermatophytosis Suggested by Matrix-Assisted Laser Desorption/ Ionization Time-Of-Flight Mass Spectrometry Analysis
  6. 246
    “…BACKGROUND: All YTH domain family members are m(6)A reader proteins accounting for the methylation modulation involved in the process of tumorgenesis and tumor progression. …”
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    Comprehensive Analysis of YTH Domain Family in Lung Adenocarcinoma: Expression Profile, Association with Prognostic Value, and Immune Infiltration
  7. 247
    “…RESULTS: There was no significant differences between groups in the pre-intervention phase in all dimensions of family functioning (P>0.05). There were significant differences between intervention and control groups, in the post-intervention phase in mean problem-solving dimension (11.80 vs. 15.53, P=0.012) and in 2 weeks after intervention, in the dimensions of roles (21.71 vs. 23.43, P=0.015), affective involvement (19.03 vs. 21.59, P=0.017), behavior control (23.90 vs. 26.93, P=0.045), general functioning (27.15 vs. 31.40, P=0.013), and total family functioning (134.12 vs. 153.09, P=0.001). …”
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    Evaluating the Effect of Peer-Assisted Education on the Functioning in Family Caregivers of Patients with Schizophrenia: A Clinical Trial Study
  8. 248
    “…Within eukaryotes, a wide array of evolutionary diversity exists. Humans possess all four Y-family pols (pols η, ι, κ, and Rev1), Schizosaccharomyces pombe has three Y-family pols (pols η, κ, and Rev1), and Saccharomyces cerevisiae only has polη and Rev1. …”
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    Identification and Characterization of Thermostable Y-Family DNA Polymerases η, ι, κ and Rev1 From a Lower Eukaryote, Thermomyces lanuginosus
  9. 249
    “…The underlying common mechanistic feature of all IS6 family members which have been investigated is that they appear to transpose by replicative transposition and form pseudo compound transposons with the flanking IS in direct repeat and in which associated genes are simply transferred to the target replicon and lost from the donor. …”
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    Response from Varani et al. to “Comment on ‘the IS6 family, a clinically important group of insertion sequences including IS26’ by Ruth M. Hall”
  10. 250
    “…Notably, in all cancer types examined, nearly all KMT2 family members were substantially linked with overall survival in patients with renal clear cell carcinoma (KIRC). …”
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    A Pan-Cancer Study of KMT2 Family as Therapeutic Targets in Cancer
  11. 251
    “…CONCLUSIONS: Countries should work towards a comprehensive national suicide guideline that includes all categories of family-based recommendations. Countries with previously established guidelines should work towards the inclusion of evidence-based recommendations that have clear implementation plans to potentially help lower suicide rates.…”
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    National suicide management guidelines recommending family-based prevention, intervention and postvention and their association with suicide mortality rates: systematic review
  12. 252
    “…AS was highly suspected and confirmed by exome sequencing which revealed a novel heterozygous missense mutation in COL4A3 gene (c.G3566A: p.G1189E) in all the affected family members, although their current medical conditions vary significantly. …”
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    Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family
  13. 253
    “…Two conserved basic residues within the helix α3 of DNA binding domains (DBDs) contribute to constitutive or inducible nuclear import for all zebrafish IRF family members and DNA binding for most members, thereby enabling them to function as transcription factors. …”
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    Promoter Binding and Nuclear Retention Features of Zebrafish IRF Family Members in IFN Response
  14. 254
    “…PATIENTS/METHODS: We screened 106 patients suspected of IT using whole exome‐ or whole genome sequencing and performed co‐segregation analyses of mBSS families. All probands and family members were phenotypically characterized. …”
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    The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark
  15. 255
    “…In addition, the effect of DNA demethylation on the expression status of the MAGE-B1 gene was evaluated by RT-PCR in HCT116 and Caco-2 cells and by qRT-PCR for HCT116 only after treating both CC cell lines with varying concentrations of 5-aza-2′-deoxycytidine (1.0, 5.0, and 10.0 μM) for 48 or 72 hours. All MAGE-B family genes except for MAGE-B1 showed weak bands in several samples of NC tissues: MAGE-B2, MAGE-B3, MAGE-B4, MAGE-B5, and MAGE-B6 genes were observed in 40%, 50%, 40%, 30%, and 60% of the NC samples, respectively. …”
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    Expression Profile of MAGE-B1 Gene and Its Hypomethylation Activation in Colon Cancer
  16. 256
    “…The expression levels of all tomato GASA family genes were responsive to exogenous GA treatment, but adding ethylene eliminated this effect. …”
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    Genome-wide characterization of the tomato GASA family identifies SlGASA1 as a repressor of fruit ripening
  17. 257
    “…His clinical and follow-up data were collected for 10 years. All of the family members were given an oral glucose tolerance test. …”
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    Case report: A 10-year prognosis of neonatal diabetes caused by a novel INS gene mutation
  18. 258
    “…CRAFT has been implemented in all 17 Canadian family medicine residency programs, with each program taking advantage of the high-level nature of the CRAFT guidelines to create bespoke assessment processes and tools appropriate for their local contexts. …”
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    Development, Implementation, and Meta-Evaluation of a National Approach to Programmatic Assessment in Canadian Family Medicine Residency Training
  19. 259
    “…Genetic counseling is needed to include all first-degree family members for early diagnosis and management of the disease in our country.…”
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    Clinical and Genetic Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy Patients: A Single-Center Experience
  20. 260
    “…We then examined 1,217 individuals (570 with psoriasis) from 310 families, in their homes in the southern part of Sweden. All the available family members were examined clinically and asked about the course of the skin disease and the occurrence of other diseases. …”
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    Collecting a set of psoriasis family material through a patient organisation; clinical characterisation and presence of additional disorders
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